ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.141C>T (p.Val47=)

dbSNP: rs762600291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001394333 SCV001596015 likely benign Severe myoclonic epilepsy in infancy 2020-09-10 criteria provided, single submitter clinical testing

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